Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13

The extraocular fibrosis syndromes are congenital ocular-motility disorders that arise from dysfunction of the oculomotor, trochlear, and abducens nerves and/or the muscles that they innervate. Each is marked by a specific form of restrictive paralytic ophthalmoplegia with or without ptosis. Individuals with the classic form of congenital fibrosis of the extraocular muscles (CFEOM1) are born with bilateral ptosis and a restrictive infraductive external ophthalmoplegia. We previously demonstrated that CFEOM1 is caused by an autosomal dominant locus on chromosome 12 and results from a developmental absence of the superior division of the oculomotor nerve. We now have mapped a variant of CFEOM, exotropic strabismus fixus ("CFEOM2"). Affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes "frozen" in extreme abduction. This autosomal recessive disorder is present in members of three consanguineous Saudi Arabian families. Genetic analysis of 70 individuals (20 affected individuals) reveals linkage to markers on chromosome 11q13, with a combined LOD score of 12.3 at the single nonrecombinant marker, D11S1314. The 2.5-cM CFEOM2 critical region is flanked by D11S4196/D11S4162 and D11S4184/1369. Two of the three families share a common disease-associated haplotype, suggesting a founder effect for CFEOM2. We hypothesize that CFEOM2 results from an analogous developmental defect to CFEOM1, one that affects both the superior and inferior divisions of the oculomotor nerve and their corresponding alpha motoneurons and extraocular muscles.     

Purification and properties of beta-N-Acetylhexosaminidase from cabbage

beta-N-Acetylhexosaminidase was purified from the extract of cabbage by sequential steps of ammonium sulfate fractionation, chromatofocusing, DEAE-Sepharose CL-6B ion exchange chromatography and Sephacryl S-200 HR gel filtration. By these steps, the purity of the enzyme increased by 256 fold with a recovery of 8%. The purified enzyme was homogeneous as examined by native PAGE. It showed an optimal pH of 4, an optimal temperature of 60 degrees C and a Km of 0.94 mM for hydrolysis of pNp-beta-GlcNAc. The molecular mass of the enzyme determined from filtration through Sephacryl S-200 was 150 kDa. Three subunits with molecular mass of 64, 57 and 51 kDa were observed as determined by SDS-PAGE. NBS (0.025 mM), DEPC (3 mM) and WRK (30 mM) significantly inhibited the activity of the enzyme. The enzyme also showed activity toward pNp-beta-GalNAc, N,N'-diacetylchitobiose, N,N',N"-triacetylchitotriose and N,N',N",N"'-tetraacetyl chitotetraose but showed no activity toward pNp-alpha-GlcNAc, chitin and ethylene glycol chitin.     

Radiotherapy of plantar heel spurs: indications, technique, clinical results at different dose concepts

BACKGROUND: In a retrospective study the efficacy of orthovoltage radiotherapy for refractory painful plantar heel spur was analyzed for 3 different radiation dose concepts. PATIENTS AND METHODS: From 1.1 1984 through 1.3.1994, 182 patients with refractory painful heel symptoms and radiologically proven plantar heel spur received radiotherapy. A total of 141 patients and 170 heels (due to double-sided symptoms) were completely documented in long-term follow-up. Clearly defined semi-quantitative criteria (9-point score) were used to analyze heel pain and ankle function prior to RT, 6 to 12 weeks post-radiation, and at last follow-up. The treatment outcome, i.e. (un)favourable response, of 3 radiation dose concepts were compared: Group A (n = 72 heels) received 12 Gy total radiation dose in 3 fractions per week and 2 series (6 x 1 Gy per series) separated by 6 weeks; group B (n = 98 heels) received 3 Gy total radiation dose in 10 fractions of 0.3 Gy (n = 50) or 5 Gy (10 x 0.5 Gy) (n = 48) with conventional fractionation in 1 series. RESULTS: Radiotherapy was very effective: at last follow-up 67% (group A) and 71% (group B) remained completely free of pain. The rate of "complete pain relief" (i.e. free of any pain symptoms) was not different between the 3 radiation concepts. However, significant differences were observed with regard to "incomplete or insufficient pain relief", i.e. a subjective pain relief of less than 80%, a delayed pain relief after more than 4 weeks or a relapse of pain symptoms in long-term follow-up. More favourable results were achieved in patients receiving 5 Gy or 12 Gy total dose, while patients with 3 Gy total dose had significantly worse results. Prognostic factors for "complete pain relief" were short duration of pain symptoms and acute pain symptoms prior to radiotherapy; with regard to "in-complete or insufficient pain relief" the total dose was found to be a prognostic parameter. CONCLUSIONS: Patients with refractory heel pain can yield a high response to radiotherapy even after failing various conventional treatments previously. Thus, radiotherapy should not be solely regarded as a last resort due to its low costs and high efficacy at low radiation doses.     

Progressive subretinal fibrosis and blindness in patients with multifocal granulomatous chorioretinitis

Since women with a first-degree relative with breast cancer are at increased risk for breast cancer, it is of special importance that they adhere to early detection programs. In this study, women with (389) and without (3295) a family history of breast cancer were compared with respect to risk perception, breast cancer anxiety, and early detection behavior. Special attention was paid to the role of knowing that family history is a breast cancer risk factor. It was found that 46% of "family history positives" did not know that their risk was increased by their family history. Still, family history positives had increased risk perception; our results suggest that this was partly caused by their knowing they belonged to a risk group and partly by their having experienced the disease at close range. Although family history positives had higher risk perceptions, no differences in early detection behavior were found. This could not be attributed to high anxiety levels. Implications for health education are discussed.     

Intelligently tuned wavelet parameters for GPS/INS error estimation

This paper presents a new algorithm for de-noising global positioning system (GPS) and inertial navigation system (INS) data and estimates the INS error using wavelet multi-resolution analysis algorithm (WMRA)-based genetic algorithm (GA) with a well-designed structure appropriate for practical and real time implementations because of its very short training time and elevated accuracy. Different techniques have been implemented to de-noise and estimate the INS and GPS errors. Wavelet de-noising is one of th...     

Replica Placement Strategies in Data Grid

Replication is a technique used in Data Grid environments that helps to reduce access latency and network bandwidth utilization. Replication also increases data availability thereby enhancing system reliability. The research addresses the problem of replication in Data Grid environment by investigating a set of highly decentralized dynamic replica placement algorithms. Replica placement algorithms are based on heuristics that consider both network latency and user requests to select the best candidate sites to place replicas. Due to dynamic nature of Grid, the candidate site holds replicas currently may not be the best sites to fetch replicas in subsequent periods. Therefore, a replica maintenance algorithm is proposed to relocate replicas to different sites if the performance metric degrades significantly. The study of our replica placement algorithms is carried out using a model of the EU Data Grid Testbed 1 [Bell et al. Comput. Appl., 17(4), 2003] sites and their associated network geometry. We validate our replica placement algorithms with total file transfer times, the number of local file accesses, and the number of remote file accesses.     

Development of clinical indicators for performance measurement and improvement: an HMO/purchaser collaborative effort

This article describes a collaborative effort between a major health care purchaser, three area health maintenance organizations, and a state Medicaid agency to develop clinical indicators as the basis for a comparison database. Some of the difficulties in developing a "common yardstick" of quality and value are candidly discussed.     

Multiple expert classification: a new methodology for parallel decision fusion

Abstract. A new parallel hybrid decision fusion methodology is proposed. It is demonstrated that existing parallel multiple expert decision combination approaches can be divided into two broad categories based on the implicit decision emphasis implemented. The first category consists of methods implementing computationally intensive decision frameworks incorporating a priori information about the target task domain and the reliability of the participating experts, while the second category encompasses approaches implementing group consensus without assigning any importance to the reliability of the experts and ignoring other contextual information. The methodology proposed in this paper is a hybridisation of these two approaches and has shown significant performance enhancements in terms of higher overall recognition rates along with lower substitution rates. Detailed analysis using two different databases supports this claim. Received January 19, 1999 / Revised March 20, 2000     

Implications to stormwater management as a result of lot scale rainwater tank systems: a case study in Western Sydney, Australia

Rainwater tanks are increasingly adopted in Australia to reduce potable water demand and are perceived to reduce the volume of stormwater discharge from developments. This paper investigates the water balance of rainwater tanks, in particular the possible impacts these tanks could have in controlling the stormwater discharge volume. The study collected water quantity data from two sites in the Hawkesbury City Council area, New South Wales, Australia and utilised the collected data in a simple water balance model to assess the effectiveness of rainwater tanks in reducing the stormwater discharge volume. The results indicate that a significant reduction in discharge volume from a lot scale development can be achieved if the rainwater tank is connected to multiple end-uses, but is minimal when using irrigation alone. In addition, the commonly used volumetric runoff coefficient of 0.9 was found to over-estimate the runoff from the roof areas and to thereby under-estimate the available volume within the rainwater tanks for retention or detention. Also, sole reliance on the water in the rainwater tanks can make the users aware of their water use pattern and water availability, resulting in significant reductions in water use as the supply dwindles, through self-imposed water restrictions.